Article
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Nature immunology - 1 Nov 2008
Shiow Lawrence R, Roadcap David W, Paris Kenneth, Watson Susan R, Grigorova Irina L, Lebet Tonya, An Jinping, Xu Ying, Jenne Craig N, Föger Niko, Sorensen Ricardo U, Goodnow Christopher C, Bear James E, Puck Jennifer M, Cyster Jason G
Abstract excerpt
Mice carrying the recessive locus for peripheral T cell deficiency (Ptcd) have a block in thymic egress, but the mechanism responsible is undefined. Here we found that Ptcd T cells had an intrinsic migration defect, impaired lymphoid tissue trafficking and irregularly shaped protrusions. Characterization of the Ptcd locus showed a point substitution of lysine for glutamic acid at position 26 in the actin...
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